X-linked lymphoproliferative syndrome

Definition:

The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency that is characterized by lymphohystiocytosis, hypogammaglobulinaemia and lymphomas, and that usually develops in response to infection with Epstein-Barr virus (EBV). Mutations in the SH2D1A/SAP gene, a signalling adaptor molecule, underlie 60% of cases of familial XLP. Recently, mutations in the XIAP gene have been identified in patients with XLP.

References:

[1]. Claire Booth, et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2011 Jan 6;117(1):53-62. [Content Brief]

[2]. O Brandau, et al. Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Hum Mol Genet. 1999 Dec;8(13):2407-13. [Content Brief]

[3]. Stéphanie Rigaud, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006 Nov 2;444(7115):110-4. [Content Brief]

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